Literature DB >> 33602551

251st ENMC international workshop: Polyglucosan storage myopathies 13-15 December 2019, Hoofddorp, the Netherlands.

Pascal Laforêt1, Anders Oldfors2, Edoardo Malfatti3, John Vissing4.   

Abstract

Entities:  

Year:  2021        PMID： 33602551      PMCID： PMC8474010          DOI： 10.1016/j.nmd.2021.01.010

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


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  78 in total

1.  Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy.

Authors:  B A Minassian; L Ianzano; M Meloche; E Andermann; G A Rouleau; A V Delgado-Escueta; S W Scherer
Journal:  Neurology       Date:  2000-08-08       Impact factor: 9.910

2.  Muscle glycogen synthesis and breakdown are both impaired in glycogenin-1 deficiency.

Authors:  Mads Godtfeldt Stemmerik; Karen Lindhardt Madsen; Pascal Laforêt; Astrid Emilie Buch; John Vissing
Journal:  Neurology       Date:  2017-11-15       Impact factor: 9.910

3.  Characterization of the enzymatic defect in late-onset muscle phosphofructokinase deficiency. New subtype of glycogen storage disease type VII.

Authors:  S Vora; S DiMauro; D Spear; D Harker; M J Danon
Journal:  J Clin Invest       Date:  1987-11       Impact factor: 14.808

4.  Severe asymmetric muscle weakness revealing glycogenin-1 polyglucosan body myopathy.

Authors:  Tanya Stojkovic; Anaïs Chanut; Pascal Laforêt; Angeline Madelaine; François Petit; Norma B Romero; Edoardo Malfatti
Journal:  Muscle Nerve       Date:  2017-12-22       Impact factor: 3.217

Review 5.  Lafora disease.

Authors:  Julie Turnbull; Erica Tiberia; Pasquale Striano; Pierre Genton; Stirling Carpenter; Cameron A Ackerley; Berge A Minassian
Journal:  Epileptic Disord       Date:  2016-09-01       Impact factor: 1.819

6.  Pulmonary glycogen deficiency as a new potential cause of respiratory distress syndrome.

Authors:  Giorgia Testoni; Bárbara Olmeda; Jordi Duran; Elena López-Rodríguez; Mònica Aguilera; María Isabel Hernández-Álvarez; Neus Prats; Jesús Pérez-Gil; Joan J Guinovart
Journal:  Hum Mol Genet       Date:  2021-01-06       Impact factor: 6.150

7.  Muscle MRI findings in siblings with juvenile-onset acid maltase deficiency (Pompe disease).

Authors:  Nomazulu Dlamini; Wajanat Jan; Fiona Norwood; Jennie Sheehan; Rachael Spahr; Safa Al-Sarraj; J Anthony Hulse; Derralynn Hughes; Michael P Champion; Heinz Jungbluth
Journal:  Neuromuscul Disord       Date:  2008-04-22       Impact factor: 4.296

8.  Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement.

Authors:  Kai Wang; Cecilia Kim; Jonathan Bradfield; Yunfei Guo; Elina Toskala; Frederick G Otieno; Cuiping Hou; Kelly Thomas; Christopher Cardinale; Gholson J Lyon; Ryan Golhar; Hakon Hakonarson
Journal:  Genome Med       Date:  2013-07-26       Impact factor: 11.117

9.  Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.

Authors:  Carola Hedberg-Oldfors; Emma Glamuzina; Peter Ruygrok; Lisa J Anderson; Perry Elliott; Oliver Watkinson; Chris Occleshaw; Malcolm Abernathy; Clinton Turner; Nicola Kingston; Elaine Murphy; Anders Oldfors
Journal:  J Inherit Metab Dis       Date:  2016-10-07       Impact factor: 4.982

10.  A prevalent variant in PPP1R3A impairs glycogen synthesis and reduces muscle glycogen content in humans and mice.

Authors:  David B Savage; Lanmin Zhai; Balasubramanian Ravikumar; Cheol Soo Choi; Johanna E Snaar; Amanda C McGuire; Sung-Eun Wou; Gemma Medina-Gomez; Sheene Kim; Cheryl B Bock; Dyann M Segvich; Bhavana Solanky; Dinesh Deelchand; Antonio Vidal-Puig; Nicholas J Wareham; Gerald I Shulman; Fredrik Karpe; Roy Taylor; Bartholomew A Pederson; Peter J Roach; Stephen O'Rahilly; Anna A DePaoli-Roach
Journal:  PLoS Med       Date:  2008-01-29       Impact factor: 11.069
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